15 results on '"Blau, N"'
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2. AGEING BRAIN, MOVEMENT DISORDERS AND DEMENTIA: WHAT IS THE LINK WITH MONOGENIC DISEASES?
3. Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
4. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
5. Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia
6. Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery
7. Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
8. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
9. Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings
10. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
11. A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
12. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies
13. Genotype-phenotype correlation in dihydropteridine reductase deficiency
14. A NEW CASE OF TYROSINE HYDROXYLASE DEFICIENCY
15. A Missense Mutation in a Patient With Guanosine Triphosphate Cyclohydrolase I Deficiency Missed in the Newborn Screening Program
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